| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | GeneticVariation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. | 27612211 | 2016 |
||||
|
0.800 | GeneticVariation | UNIPROT | Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. | 27612211 | 2016 |